Mutagenetix > Incidental Mutation

Incidental Mutation 'R6243:Trim66'

505386

Institutional Source

Beutler Lab

Gene Symbol

Trim66

Ensembl Gene

ENSMUSG00000031026

Gene Name

tripartite motif-containing 66

Synonyms

Tif1d, D7H11orf29

MMRRC Submission

044365-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R6243 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109449006-109508134 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109460274 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 921 (K921R)

Ref Sequence

ENSEMBL: ENSMUSP00000102352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033339] [ENSMUST00000106739] [ENSMUST00000106741]

AlphaFold

Q924W6

Predicted Effect

probably benign
Transcript: ENSMUST00000033339
AA Change: K819R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000033339
Gene: ENSMUSG00000031026
AA Change: K819R

Domain	Start	End	E-Value	Type
PHD	4	69	7.77e0	SMART
BBC	108	234	1.61e-39	SMART
low complexity region	318	333	N/A	INTRINSIC
low complexity region	452	486	N/A	INTRINSIC
low complexity region	517	530	N/A	INTRINSIC
low complexity region	568	581	N/A	INTRINSIC
PHD	998	1041	4.09e-10	SMART
BROMO	1069	1175	8.22e-27	SMART
low complexity region	1185	1199	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106739
AA Change: K819R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000102350
Gene: ENSMUSG00000031026
AA Change: K819R

Domain	Start	End	E-Value	Type
PHD	4	69	7.77e0	SMART
BBC	108	234	1.61e-39	SMART
low complexity region	318	333	N/A	INTRINSIC
low complexity region	452	486	N/A	INTRINSIC
low complexity region	517	530	N/A	INTRINSIC
low complexity region	568	581	N/A	INTRINSIC
PHD	998	1041	4.09e-10	SMART
BROMO	1069	1175	8.22e-27	SMART
low complexity region	1185	1199	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106741
AA Change: K921R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000102352
Gene: ENSMUSG00000031026
AA Change: K921R

Domain	Start	End	E-Value	Type
RING	28	78	2.38e-2	SMART
BBOX	102	140	1.48e0	SMART
PHD	106	171	7.77e0	SMART
RING	107	170	4.38e0	SMART
BBOX	162	203	4.21e-3	SMART
BBC	210	336	1.61e-39	SMART
low complexity region	420	435	N/A	INTRINSIC
low complexity region	554	588	N/A	INTRINSIC
low complexity region	619	632	N/A	INTRINSIC
low complexity region	670	683	N/A	INTRINSIC
PHD	1100	1143	4.09e-10	SMART
BROMO	1171	1277	8.22e-27	SMART
low complexity region	1287	1301	N/A	INTRINSIC

Meta Mutation Damage Score

0.0613

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (73/74)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	T	C	13: 104,314,301	S331P	probably damaging	Het
Akap9	T	G	5: 4,065,000		probably null	Het
Ankef1	A	G	2: 136,537,157	E9G	probably damaging	Het
Ap1g2	T	C	14: 55,099,073	E788G	probably benign	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Asrgl1	A	T	19: 9,116,504	I220K	probably damaging	Het
Atg16l2	A	C	7: 101,292,329	*404E	probably null	Het
Atp4a	T	C	7: 30,715,957	F334S	possibly damaging	Het
Atp6v0d1	T	C	8: 105,565,863	E17G	probably benign	Het
Bcat2	T	C	7: 45,588,267	V279A	probably benign	Het
Birc6	T	G	17: 74,609,387	M459R	probably damaging	Het
Bsn	T	C	9: 108,107,561	Y3098C	unknown	Het
Btaf1	T	A	19: 36,981,120	M679K	probably benign	Het
Col6a4	T	C	9: 106,013,390	T1902A	possibly damaging	Het
Crhr1	G	A	11: 104,173,914	C364Y	probably damaging	Het
Crmp1	T	C	5: 37,288,944	L648P	probably damaging	Het
Cyfip1	T	C	7: 55,900,529	Y671H	probably damaging	Het
Cyp2b13	C	T	7: 26,061,619	P34S	probably damaging	Het
Dnajb6	T	A	5: 29,781,133	V233E	probably benign	Het
Dnhd1	A	T	7: 105,652,009	H191L	probably damaging	Het
Dsg3	T	A	18: 20,539,724	D817E	probably damaging	Het
Dytn	T	C	1: 63,647,521	Q330R	possibly damaging	Het
Fads1	G	T	19: 10,185,727	E123*	probably null	Het
Fchsd2	T	C	7: 101,271,809		probably benign	Het
Fmo9	T	C	1: 166,667,369	E270G	probably benign	Het
Folr1	T	A	7: 101,863,965	H41L	probably damaging	Het
Gm29776	T	A	14: 54,695,759	R322S	probably damaging	Het
Gm7298	A	G	6: 121,779,137	N985S	possibly damaging	Het
Gp1ba	T	C	11: 70,640,137		probably benign	Het
Hspa4	C	T	11: 53,262,939	E702K	probably benign	Het
Igf2bp3	A	T	6: 49,107,428	N285K	possibly damaging	Het
Lca5l	G	A	16: 96,178,912	T6I	possibly damaging	Het
Mapk8ip1	C	A	2: 92,389,244	G81C	probably damaging	Het
Mpeg1	A	G	19: 12,462,240	H354R	probably benign	Het
Msh6	T	A	17: 87,983,571	V195E	possibly damaging	Het
Mtfmt	C	T	9: 65,443,900	T243I	probably benign	Het
Myo1h	T	A	5: 114,362,147	I195K	probably damaging	Het
Nr1h5	T	C	3: 102,949,064	K300E	probably benign	Het
Nuak2	T	C	1: 132,332,367	S628P	probably benign	Het
Nup214	G	T	2: 32,002,932	A721S	possibly damaging	Het
Olfr1148	A	G	2: 87,833,041	M1V	probably null	Het
Olfr74	A	G	2: 87,974,587	V26A	probably benign	Het
Pclo	T	C	5: 14,676,443		probably benign	Het
Phf20	A	G	2: 156,223,400	S12G	probably benign	Het
Pik3r5	T	C	11: 68,492,000	Y289H	probably damaging	Het
Pld1	T	C	3: 28,095,805	I717T	probably damaging	Het
Plxdc1	A	G	11: 97,955,473	Y182H	probably damaging	Het
Ppid	A	G	3: 79,603,066	I354V	probably benign	Het
Prss2	T	C	6: 41,524,453	V152A	probably benign	Het
Rab28	C	T	5: 41,635,880	A141T	probably benign	Het
Rabgap1l	C	T	1: 160,645,307		probably null	Het
Rabl6	T	G	2: 25,585,403	S553R	probably damaging	Het
Rars	A	G	11: 35,826,547	F170S	possibly damaging	Het
Ror2	T	A	13: 53,113,080	M440L	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Homo
Rsph4a	A	T	10: 33,909,143	Q350L	probably damaging	Het
Serpinb2	T	C	1: 107,523,139	F204L	probably damaging	Het
Sertad4	T	C	1: 192,850,949		probably null	Het
Shisa3	C	T	5: 67,611,143	P129S	probably benign	Het
Slc13a2	G	A	11: 78,404,708	L111F	probably damaging	Het
Slc35e2	C	T	4: 155,610,026	P10L	probably benign	Het
Stab2	T	A	10: 86,907,161	R1195W	probably damaging	Het
Syna	C	A	5: 134,560,114		probably benign	Het
Thada	A	T	17: 84,436,602	D759E	probably benign	Het
Thoc5	A	G	11: 4,919,753	Y385C	possibly damaging	Het
Thsd7a	C	T	6: 12,327,602	D1424N	probably damaging	Het
Thsd7b	A	T	1: 130,162,862	Q1204L	probably benign	Het
Tnfrsf8	T	C	4: 145,303,101	N43S	possibly damaging	Het
Uaca	G	A	9: 60,870,044	R571Q	probably damaging	Het
Ugt2a2	T	G	5: 87,462,959	K339N	probably benign	Het
Vmn2r8	T	C	5: 108,799,345	T514A	probably benign	Het
Wrn	A	T	8: 33,284,654	M652K	possibly damaging	Het
Yme1l1	A	T	2: 23,193,172	Y550F	probably benign	Het
Zfp995	G	A	17: 21,880,288	P322S	probably damaging	Het

Other mutations in Trim66

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01539:Trim66	APN	7	109455066	missense	probably benign	0.02
IGL01758:Trim66	APN	7	109486045	critical splice donor site	probably null
IGL01982:Trim66	APN	7	109458763	missense	probably benign	0.00
IGL01983:Trim66	APN	7	109458251	nonsense	probably null
IGL02149:Trim66	APN	7	109460902	missense	possibly damaging	0.66
IGL02392:Trim66	APN	7	109460274	missense	probably benign	0.01
IGL02483:Trim66	APN	7	109477630	splice site	probably benign
IGL02832:Trim66	APN	7	109460497	missense	probably damaging	1.00
IGL02945:Trim66	APN	7	109460176	nonsense	probably null
IGL03085:Trim66	APN	7	109458745	missense	probably benign	0.17
PIT1430001:Trim66	UTSW	7	109475247	missense	probably damaging	0.99
R0326:Trim66	UTSW	7	109460172	missense	probably benign	0.00
R0358:Trim66	UTSW	7	109460176	nonsense	probably null
R0401:Trim66	UTSW	7	109475264	missense	probably damaging	0.98
R0470:Trim66	UTSW	7	109457542	splice site	probably benign
R0568:Trim66	UTSW	7	109460695	missense	probably benign	0.00
R0669:Trim66	UTSW	7	109454992	intron	probably benign
R0980:Trim66	UTSW	7	109455670	missense	probably damaging	1.00
R1015:Trim66	UTSW	7	109455233	missense	probably damaging	1.00
R1078:Trim66	UTSW	7	109472319	missense	probably damaging	1.00
R1099:Trim66	UTSW	7	109475454	missense	probably benign	0.34
R1181:Trim66	UTSW	7	109484577	critical splice donor site	probably null
R1497:Trim66	UTSW	7	109484619	missense	probably benign	0.00
R1583:Trim66	UTSW	7	109455080	missense	probably damaging	1.00
R1843:Trim66	UTSW	7	109475839	missense	probably damaging	0.99
R1998:Trim66	UTSW	7	109484577	critical splice donor site	probably null
R2016:Trim66	UTSW	7	109472232	critical splice donor site	probably null
R2143:Trim66	UTSW	7	109475113	missense	probably damaging	0.98
R2144:Trim66	UTSW	7	109475113	missense	probably damaging	0.98
R2145:Trim66	UTSW	7	109475113	missense	probably damaging	0.98
R3945:Trim66	UTSW	7	109472268	missense	possibly damaging	0.94
R4012:Trim66	UTSW	7	109458131	missense	probably damaging	0.98
R4464:Trim66	UTSW	7	109477690	missense	possibly damaging	0.51
R4473:Trim66	UTSW	7	109481995	missense	probably damaging	1.00
R4729:Trim66	UTSW	7	109456060	critical splice donor site	probably null
R4730:Trim66	UTSW	7	109483069	missense	probably damaging	1.00
R4775:Trim66	UTSW	7	109457589	nonsense	probably null
R4819:Trim66	UTSW	7	109457586	missense	probably damaging	1.00
R5269:Trim66	UTSW	7	109457590	missense	probably benign	0.00
R5557:Trim66	UTSW	7	109483737	missense	probably benign	0.06
R5832:Trim66	UTSW	7	109455202	missense	probably damaging	1.00
R6220:Trim66	UTSW	7	109483093	missense	probably damaging	0.97
R6374:Trim66	UTSW	7	109486062	missense	probably benign
R6450:Trim66	UTSW	7	109460738	missense	probably benign	0.09
R6543:Trim66	UTSW	7	109475879	missense	probably benign	0.01
R6788:Trim66	UTSW	7	109477754	missense	probably damaging	1.00
R6842:Trim66	UTSW	7	109460776	missense	probably benign	0.00
R7169:Trim66	UTSW	7	109455121	missense	probably benign	0.25
R7257:Trim66	UTSW	7	109460244	missense	probably damaging	1.00
R7328:Trim66	UTSW	7	109457751	missense	probably damaging	0.99
R7616:Trim66	UTSW	7	109483749	missense	probably damaging	0.99
R8423:Trim66	UTSW	7	109475392	missense	possibly damaging	0.77
R8855:Trim66	UTSW	7	109481981	missense	probably damaging	1.00
R9130:Trim66	UTSW	7	109477689	missense	possibly damaging	0.90
R9137:Trim66	UTSW	7	109475123	missense	probably damaging	0.99
R9640:Trim66	UTSW	7	109475618	missense	probably damaging	1.00
RF013:Trim66	UTSW	7	109460753	missense	probably damaging	0.99
RF024:Trim66	UTSW	7	109460740	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- GTCCTTCTAAGCAGCATCCC -3'
(R):5'- ACTGACAGCCTCTCACCTTAGC -3'

Sequencing Primer
(F):5'- TTCTAAGCAGCATCCCCCAGG -3'
(R):5'- GACAGCCTCTCACCTTAGCCTTAAC -3'

Posted On

2018-02-28